Association of RFC1 A80G and MTHFR C677T polymorphisms with Alzheimer's disease

Bi, Xiu-Hua; Zhao, Hua-Lu; Zhang, Zhenxin; Zhang, Jun-Wu

doi:10.1016/j.neurobiolaging.2007.12.010

Cited by 46 publications

(57 citation statements)

References 27 publications

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“…As shown in Table 4, the frequencies of the T allele and of the homozygous mutant genotype 677T/T in our Egyptian population (38.4% and 18.6%, resp.) are midway between the frequencies in Caucasians, who have the lowest frequencies [20], and East Asians, who have the highest frequencies [30].…”

Section: Discussionmentioning

confidence: 94%

“…This supports the results of our study, which found no significant association between the 677C>T polymorphism and AD. Although a positive association has been found between MTHFR genotypes and AD in East Asians [30,34], the samples that were tested were smaller for East Asians than for Caucasians. Moreover, the control groups in some studies were non-demented individuals or hospital-based controls, which could have greatly affected the results.…”

Section: Discussionmentioning

confidence: 99%

“…However, only a few studies have reported a positive association [21,23,32]. There are cross-population differences in the frequency of the 677T/T genotype in patients with AD, ranging from 8% in Caucasian-Polish populations to 44% in East Asian (Chinese) [30]. In addition, the 677T allele frequency ranges from 27-30% in Polish populations [20] to 62% in Korean populations [32].…”

Section: Discussionmentioning

confidence: 99%

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The Mthfr 677t Allele May Influence the Severity and Biochemical Risk Factors of Alzheimer'Sdisease in an Egyptian Population

Hewedi

Elhawary

2015

European Psychiatry

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Objective. We evaluated whether the methylenetetrahydrofolate reductase (MTHFR) 677C>T marker influences the risk and severity of Alzheimer's disease (AD) and whether AD is associated with homocysteine, vitamin B12, and cholesterol levels in Egypt. Methods. Forty-three Alzheimer's cases and 32 non-AD controls were genotyped for the 677C>T polymorphism. Clinical characteristics and levels of homocysteine, vitamin B12, and cholesterol were assessed. Results. No significant differences in the frequencies of the MTHFR alleles or genotypes between AD cases and controls ( = 0.14) were identified. The 677T mutant allele was significantly overrepresented in AD cases compared to controls (OR = 2.22; = 0.03). The 677T/T frequency was three times higher in AD patients than in controls, which could increase plasma homocysteine levels. Severe cases of AD were the most frequent in patients with the T/T genotype (11.6%). The effect of the MTHFR polymorphism on the risk of AD may be independent of homocysteine, vitamin B12, or even cholesterol levels. Conclusions. The MTHFR 677C>T polymorphism-especially the presence of one copy of the T allele-appears to confer a potential risk for the development of AD. The T/T genotype may contribute to hypercysteinemia as a sensitive marker.

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Section: Discussionmentioning

confidence: 94%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

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The Mthfr 677t Allele May Influence the Severity and Biochemical Risk Factors of Alzheimer'Sdisease in an Egyptian Population

Hewedi

Elhawary

2015

European Psychiatry

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“…Total nine articles that investigated the association between C677T polymorphism and AD were found suitable for the inclusion in the present meta-analysis [18,19,[28][29][30][31][32][33][34]. The studies were published between 1998 and 2013.…”

Section: Resultsmentioning

confidence: 99%

“…The studies were published between 1998 and 2013. All these nine studies were performed in different countries-China [19,29,32], India [33,34], Iran [30], Israel [18], Japan [28], and Korea [31].…”

Section: Resultsmentioning

confidence: 99%

Folate Pathway Gene Methylenetetrahydrofolate Reductase C677T Polymorphism and Alzheimer Disease Risk in Asian Population

Rai

2015

Ind J Clin Biochem

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The association between methylenetetrahydrofolate reductase (MTHFR) C677T polymorphism and susceptibility to Alzheimers disease (AD) was controversial in previous studies. The present meta-analysis was designed to investigate the association of MTHFR C677T polymorphism with AD. Nine studies were identified by search of PubMed, Google Scholar, Elsevier, Springer Link databases, up to January 2013. Odds ratios (ORs) with corresponding 95 % confidence interval (CI) were calculated using fixed effects model or random effects model. All statistical analysis was done by Mix version 1.7. MTHFR C677T polymorphism had a significant association with susceptibility to AD in all genetic models (for T vs C: OR 1.29, 95 % CI 1.15-1.44, p \ 0.0001; for TT ? CT vs CC: OR 1.38, 95 % CI 1.16-1.364, p = 0.0002; for TT vs CC: OR 1.60, 95 % CI 1.25-2.04, p = 0.0001; for CT vs CC: OR 1.28, 95 % CI 1.1-1.53, p \ 0.008; for TT vs CT ? CC: OR 1.37, 95 % CI 1.12-1.67, p = 0.002). Results from present meta-analysis supported that the MTHFR C677T polymorphism was associated with an increased risk of AD in Asian population.

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Association analysis of CβS 844ins68 and MTHFD1 G1958A polymorphisms with Alzheimer’s disease in Chinese

Zhao

Zhang

et al. 2010

J Neural Transm

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Folate deficiency and elevated plasma homocysteine play important roles in pathogenesis of Alzheimer's disease (AD). The aim of this study was to test the association of folate metabolism-related genes, cystathionine beta-synthase gene (CbetaS) and 5, 10-methylenetetrahydrofolate dehydrogenase gene (MTHFD1), with sporadic AD. The CbetaS 844ins68 polymorphism was determined by PCR and the MTHFD1 G1958A single nucleotide polymorphism (rs2236225) by PCR-RFLP. No significant difference of allele and genotype contributions of the CbetaS polymorphism between AD cases and controls was detected, before and after stratification by APOE epsilon4-carrying status, age/age at onset and genders. No significant difference of allele and genotype contributions of the MTHFD1 polymorphism between AD cases and controls was detected in total samples. When stratified by age/at onset age, we found that A allele and AA genotype frequencies in cases were higher than in controls and the differences were close to significant [A vs. G, P = 0.032, Odds ratio (OR) 1.642, 95% CI 1.040-2.591; AA + GA vs. GG, P = 0.068, OR 1.665, 95% CI 0.961-2.885; AA vs. GG, P = 0.059, OR 3.458, 95% CI 0.894-13.369] in <65 years groups, which suggested that the MTHFD1 G1958A A allele might be a weak risk factor for early onset AD although it needs further confirmation.

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Association of RFC1 A80G and MTHFR C677T polymorphisms with Alzheimer's disease

Cited by 46 publications

References 27 publications

The Mthfr 677t Allele May Influence the Severity and Biochemical Risk Factors of Alzheimer'Sdisease in an Egyptian Population

The Mthfr 677t Allele May Influence the Severity and Biochemical Risk Factors of Alzheimer'Sdisease in an Egyptian Population

Folate Pathway Gene Methylenetetrahydrofolate Reductase C677T Polymorphism and Alzheimer Disease Risk in Asian Population

Association analysis of CβS 844ins68 and MTHFD1 G1958A polymorphisms with Alzheimer’s disease in Chinese

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